遇见数据集

VPA genodermatoses_JAAD

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NIAID Data Ecosystem2026-05-02 收录
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Supplementary tables: S1: Overview of the genes included in the panel and their associated OMIM phenotype(s) S2: Demographics, panel results, implications, and secondary/carriership findings S3: Clinical characteristics of the patient cohort S4: Molecular characteristics and ACMG criteria of the identified variants S5: Overview of the alternative diagnoses made with the ‘skin panel’ and the respective management implications S6: Negative cases solved with additional genetic testing.

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2024-11-28
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